Canonical Allele Identifier: CA348869173
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570084A>T , CM000664.2:g.149570084A>T GRCh38
NC_000002.11:g.150426598A>T , CM000664.1:g.150426598A>T GRCh37
NC_000002.10:g.150134844A>T NCBI36
NG_009189.1:g.22733T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.781T>A MANE Select ENSP00000301920.5:p.Cys261Ser
ENST00000303319.9:c.781T>A ENSP00000301920.5:p.Cys261Ser
ENST00000422782.2:c.883T>A ENSP00000408331.2:p.Cys295Ser
ENST00000428879.5:c.781T>A ENSP00000389060.1:p.Cys261Ser
NM_015702.2:c.781T>A NP_056517.1:p.Cys261Ser
NM_015702.3:c.781T>A MANE Select NP_056517.1:p.Cys261Ser